A challenging diagnosis of the PIK3CA-related overgrowth spectrum

Author:

Sabir Ataf Hussain,Cocca Alessandra,Cheung Moira,Irving Melita

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference9 articles.

1. Vitamin D in childhood and adolescence.;Cashman;Postgrad Med J,2007

2. ACGS best practice guidelines for variant classification 2017.;Ellard;ACGS Guidelines,2017

3. Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.;Frisk;Clin Genet,2019

4. Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.;Keppler-Noreuil;Am J Med Genet Part A,2014

5. PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.;Keppler-Noreuil;Am J Med Genet Part A,2015

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